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P78367

- NKX32_HUMAN

UniProt

P78367 - NKX32_HUMAN

Protein

Homeobox protein Nkx-3.2

Gene

NKX3-2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    Functioni

    Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi206 – 26560HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. determination of left/right symmetry Source: Ensembl
    2. embryonic skeletal system development Source: Ensembl
    3. intestinal epithelial cell development Source: Ensembl
    4. middle ear morphogenesis Source: Ensembl
    5. negative regulation of apoptotic process Source: Ensembl
    6. negative regulation of chondrocyte differentiation Source: UniProtKB
    7. organ formation Source: Ensembl
    8. pancreas development Source: Ensembl
    9. skeletal system development Source: ProtInc
    10. skeletal system morphogenesis Source: Ensembl
    11. spleen development Source: Ensembl
    12. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Nkx-3.2
    Alternative name(s):
    Bagpipe homeobox protein homolog 1
    Homeobox protein NK-3 homolog B
    Gene namesi
    Name:NKX3-2
    Synonyms:BAPX1, NKX3B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:951. NKX3-2.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]: A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Dwarfism

    Organism-specific databases

    MIMi613330. phenotype.
    Orphaneti228387. Spondylo-megaepiphyseal-metaphyseal dysplasia.
    PharmGKBiPA162397617.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 333333Homeobox protein Nkx-3.2PRO_0000048947Add
    BLAST

    Proteomic databases

    PaxDbiP78367.
    PRIDEiP78367.

    PTM databases

    PhosphoSiteiP78367.

    Expressioni

    Tissue specificityi

    Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic skeleton.1 Publication

    Gene expression databases

    BgeeiP78367.
    CleanExiHS_NKX3-2.
    GenevestigatoriP78367.

    Organism-specific databases

    HPAiHPA027564.

    Interactioni

    Protein-protein interaction databases

    BioGridi107055. 6 interactions.
    STRINGi9606.ENSP00000371875.

    Structurei

    3D structure databases

    ProteinModelPortaliP78367.
    SMRiP78367. Positions 187-270.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi180 – 1889Poly-Gly
    Compositional biasi194 – 1985Poly-Glu
    Compositional biasi327 – 3304Poly-Ala

    Sequence similaritiesi

    Belongs to the NK-3 homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG279137.
    HOGENOMiHOG000231923.
    HOVERGENiHBG006689.
    InParanoidiP78367.
    KOiK09995.
    OMAiESPGGWD.
    OrthoDBiEOG7QZG9Z.
    PhylomeDBiP78367.
    TreeFamiTF351204.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P78367-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVRGANTLT SFSIQAILNK KEERGGLAAP EGRPAPGGTA ASVAAAPAVC    50
    CWRLFGERDA GALGGAEDSL LASPAGTRTA AGRTAESPEG WDSDSALSEE 100
    NESRRRCADA RGASGAGLAG GSLSLGQPVC ELAASKDLEE EAAGRSDSEM 150
    SASVSGDRSP RTEDDGVGPR GAHVSALCSG AGGGGGSGPA GVAEEEEEPA 200
    APKPRKKRSR AAFSHAQVFE LERRFNHQRY LSGPERADLA ASLKLTETQV 250
    KIWFQNRRYK TKRRQMAADL LASAPAAKKV AVKVLVRDDQ RQYLPGEVLR 300
    PPSLLPLQPS YYYPYYCLPG WALSTCAAAA GTQ 333
    Length:333
    Mass (Da):34,814
    Last modified:July 15, 1999 - v2
    Checksum:i8C406E188D27780B
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF005260 Genomic DNA. Translation: AAC39536.1.
    AF009801 mRNA. Translation: AAB82783.1.
    AF009802 Genomic DNA. Translation: AAB82784.1.
    BC111966 mRNA. Translation: AAI11967.1.
    U89845 Genomic DNA. Translation: AAB49696.1.
    CCDSiCCDS3410.1.
    RefSeqiNP_001180.1. NM_001189.3.
    UniGeneiHs.590927.

    Genome annotation databases

    EnsembliENST00000382438; ENSP00000371875; ENSG00000109705.
    GeneIDi579.
    KEGGihsa:579.
    UCSCiuc003gmx.2. human.

    Polymorphism databases

    DMDMi6016210.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF005260 Genomic DNA. Translation: AAC39536.1 .
    AF009801 mRNA. Translation: AAB82783.1 .
    AF009802 Genomic DNA. Translation: AAB82784.1 .
    BC111966 mRNA. Translation: AAI11967.1 .
    U89845 Genomic DNA. Translation: AAB49696.1 .
    CCDSi CCDS3410.1.
    RefSeqi NP_001180.1. NM_001189.3.
    UniGenei Hs.590927.

    3D structure databases

    ProteinModelPortali P78367.
    SMRi P78367. Positions 187-270.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107055. 6 interactions.
    STRINGi 9606.ENSP00000371875.

    PTM databases

    PhosphoSitei P78367.

    Polymorphism databases

    DMDMi 6016210.

    Proteomic databases

    PaxDbi P78367.
    PRIDEi P78367.

    Protocols and materials databases

    DNASUi 579.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382438 ; ENSP00000371875 ; ENSG00000109705 .
    GeneIDi 579.
    KEGGi hsa:579.
    UCSCi uc003gmx.2. human.

    Organism-specific databases

    CTDi 579.
    GeneCardsi GC04M013542.
    HGNCi HGNC:951. NKX3-2.
    HPAi HPA027564.
    MIMi 602183. gene.
    613330. phenotype.
    neXtProti NX_P78367.
    Orphaneti 228387. Spondylo-megaepiphyseal-metaphyseal dysplasia.
    PharmGKBi PA162397617.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG279137.
    HOGENOMi HOG000231923.
    HOVERGENi HBG006689.
    InParanoidi P78367.
    KOi K09995.
    OMAi ESPGGWD.
    OrthoDBi EOG7QZG9Z.
    PhylomeDBi P78367.
    TreeFami TF351204.

    Miscellaneous databases

    GenomeRNAii 579.
    NextBioi 2363.
    PROi P78367.
    SOURCEi Search...

    Gene expression databases

    Bgeei P78367.
    CleanExi HS_NKX3-2.
    Genevestigatori P78367.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe."
      Tribioli C., Lufkin T.
      Gene 203:225-233(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia."
      Yoshiura K., Murray J.C.
      Genomics 45:425-428(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton."
      Tribioli C., Frasch M., Lufkin T.
      Mech. Dev. 65:145-162(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 206-265.
    5. "Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia."
      Hellemans J., Simon M., Dheedene A., Alanay Y., Mihci E., Rifai L., Sefiani A., van Bever Y., Meradji M., Superti-Furga A., Mortier G.
      Am. J. Hum. Genet. 85:916-922(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SMMD, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiNKX32_HUMAN
    AccessioniPrimary (citable) accession number: P78367
    Secondary accession number(s): Q2M2I7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 15, 1999
    Last modified: October 1, 2014
    This is version 116 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3